Autosomal microsatellite and mtDNA genetic analysis in Sicily (Italy).

Dipartimento di Biopatologia e Metodologie Biomediche, Università di Palermo, Via Divisi 83, Palermo, Italy.
Annals of Human Genetics (Impact Factor: 1.93). 02/2003; 67(Pt 1):42-53. DOI: 10.1046/j.1469-1809.2003.00007.x
Source: PubMed

ABSTRACT DNA samples from 465 blood donors living in 7 towns of Sicily, the largest island of Italy, have been collected according to well defined criteria, and their genetic heterogeneity tested on the basis of 9 autosomal microsatellite and mitochondrial DNA polymorphisms for a total of 85 microsatellite allele and 10 mtDNA haplogroup frequencies. A preliminary account of the results shows that: a) the samples are genetically heterogeneous; b) the first principal coordinates of the samples are correlated more with their longitude than with their latitude, and this result is even more remarkable when one outlier sample (Butera) is not considered; c) distances among samples calculated from allele and haplogroup frequencies and from the isonymy matrix are weakly correlated (r = 0.43, P = 0.06) but such correlation disappears (r = 0.16) if the mtDNA haplogroups alone are taken into account; d) mtDNA haplogroups and microsatellite distances suggest settlements of people occurred at different times: divergence times inferred from microsatellite data seem to describe a genetic composition of the town of Sciacca mainly derived from settlements after the Roman conquest of Sicily (First Punic war, 246 BC), while all other divergence times take root from the second to the first millennium BC, and therefore seem to backdate to the pre-Hellenistic period. A more reliable association of these diachronic genetic strata to different historical populations (e.g. Sicani, Elymi, Siculi), if possible, must be postponed to the analysis of more samples and hopefully more informative uniparental DNA markers such as the recently available DHPLC-SNP polymorphisms of the Y chromosome.

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Available from: Giuseppe Matullo, Sep 29, 2014
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    • "In view of their heterogeneous background, the subject of genetic relationships between populations on the island of Sicily is controversial. Some studies based on classical polymorphisms, and later on autosomal DNA markers (Calò et al. 2003; Ghiani et al. 2002; Piazza et al. 1988; Romano et al. 2003), indicated that Sicily is genetically heterogeneous, with a considerable East–West gradient compatible with population settlements occurring at different times. Other authors (Rickards et al. 1998) state that there was no clear geographic clustering within Sicily, rejecting an East–West differentiation. "
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